Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation
(2018) In Stem Cell Research 27. p.61-64- Abstract
Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/10cc33c8-2da7-4426-bf04-4671ea399422
- author
- Russ, Kaspar
LU
; Marote, Ana
LU
; Savchenko, Ekaterina
LU
; Collin, Anna
LU
; Goldwurm, Stefano
; Pomeshchik, Yuriy
LU
and Roybon, Laurent LU
- organization
- publishing date
- 2018-03-01
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Stem Cell Research
- volume
- 27
- pages
- 4 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:85040218467
- pmid:29331938
- ISSN
- 1873-5061
- DOI
- 10.1016/j.scr.2018.01.001
- language
- English
- LU publication?
- yes
- id
- 10cc33c8-2da7-4426-bf04-4671ea399422
- date added to LUP
- 2018-01-17 09:08:06
- date last changed
- 2023-04-08 05:57:56
@article{10cc33c8-2da7-4426-bf04-4671ea399422, abstract = {{<p>Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.</p>}}, author = {{Russ, Kaspar and Marote, Ana and Savchenko, Ekaterina and Collin, Anna and Goldwurm, Stefano and Pomeshchik, Yuriy and Roybon, Laurent}}, issn = {{1873-5061}}, language = {{eng}}, month = {{03}}, pages = {{61--64}}, publisher = {{Elsevier}}, series = {{Stem Cell Research}}, title = {{Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation}}, url = {{http://dx.doi.org/10.1016/j.scr.2018.01.001}}, doi = {{10.1016/j.scr.2018.01.001}}, volume = {{27}}, year = {{2018}}, }